Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.E11V
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TARDBP

NM_007375.4:p.E11V

Associated Papers

Effects of pathological mutations on the CHCHD2 monomer structure: A study by AlphaFold3 linked to the generation of conformational ensembles.

Özmen ZA et al.

Computers in Biology and Medicine, 2025

Mitochondrial CHCHD2: Disease-Associated Mutations, Physiological Functions, and Current Animal Models.

Kee TR et al.

Frontiers in Aging Neuroscience, 2021

Mutation Screening of the CHCHD2 Gene for Alzheimer's Disease and Frontotemporal Dementia in Chinese Mainland Population.

Che XQ et al.

Journal of Alzheimer's Disease : Jad, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."